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A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
[alexander disease]
We
present
here
a
25
-
year
-old
woman
with
genetically
confirmed
(
p
.
R
276
L
mutation
in
the
GFAP
gene
)
juvenile
-onset
AxD
.
Episodic
vomiting
appeared
at
age
nine
,
causing
anorexia
and
insufficient
growth
.
Brain
MRI
at
age
11
showed
a
small
nodular
lesion
with
contrast
enhancement
in
the
left
dorsal
portion
of
the
cervicomedullary
junction
.
Her
episodic
vomiting
improved
spontaneously
at
age
13
,
and
she
became
neurologically
asymptomatic
.
The
enhancement
of
the
lesion
disappeared
simultaneously
,
although
the
plaque
remained
.
Longitudinal
MRI
observations
,
however
,
revealed
insidiously
progressive
cervicomedullary
atrophy
without
a
signal
change
.
This
case
broadens
our
knowledge
of
AxD
:
(
1
)
molecular
analysis
of
the
GFAP
gene
is
warranted
in
patients
with
MRI
evidence
of
tumor
-like
lesions
in
the
brainstem
,
particularly
if
they
present
with
isolated
episodic
vomiting
and
/
or
anorexia
;
(
2
)
the
disease
can
be
self-remitting
for
at
least
12
years
;
(
3
)
cervicomedullary
atrophy
,
characteristic
of
the
adult
form
,
can
be
insidiously
progressive
without
a
signal
change
before
the
clinical
symptoms
appear
.
Diseases
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Diseases presenting
"particularly if they present with isolated episodic vomiting and"
symptom
alexander disease
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